Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Similar movement disorders developed in two 8-year-old retarded children while they were receiving phenytoin. Seizures subsequent to a diphtheria-pertussis-tetanus immunization had developed in each child at 1 to 2 months of age. A static encephalopathy ensued, characterized by mental retardation, ataxia, spasticity, and a mixed seizure disorder. Intermittent dystonia and choreoathetosis developed insidiously while serum phenytoin concentrations were in the therapeutic range. Sustained dystonia and choreoatheosis developed 2 hours after an oral provocation with phenytoin. The baseline abnormalities on the electroencephalogram remained unchanged during the choreoathetosis. Recognizable metabolic abnormalities known to be associated with similar movement disorders were excluded. It was concluded from these studies that the movement disorder is secondary to phenytoin and can occur at therapeutic serum concentrations. Phenytoin is a central anticholinergic agent and a central stimulant of serotonin, and may induce movement disorders as a result of altering these neurotransmitters in the brain. The variable expression of these movement disorders may relate to the nature of the preexisting striatal insult.
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PMID:Phenytoin-induced dystonia and choreoathetosis in two retarded epileptic children. 94 1

A kindred in which at least 11 individuals in 3 consecutive generations have continuous muscle movement, i.e., myokymia, and periodic ataxia, has been studied. Three patients, a 24-year-old woman, her 4-year-old son and her 27-year-old sister, have been studied in detail. The disorder is inherited as an autosomal-dominant trait and presents in early childhood with attacks of ataxia of 1-2 min in duration, with associated jerking movements of the head, arms and legs. Attacks are provoked by abrupt postural change, emotional stimulus, and caloric-vestibular stimulation. At the age of 12 years approximately, facial and extremity myokymia appears. Physical findings include large calves, normal muscle strength and widespread myokymia of face, hands, arms and legs with a hand posture resembling carpopedal spasm. EMG studies at rest showed continuous spontaneous activity of otherwise normal motor units. Nerve conduction velocities were normal. Gastrocnemius biopsy in 2 patients showed fiber type grouping and small angular fibers, and was consistent with denervation. Histographic analysis of the biopsies demonstrated enlargement of both fiber types, particularly of Type I fibers. These findings are consistent with chronic denervation and an abnormality of motor neuron population or firing. The myokymia described here is of interest not only because of its genetic association with a movement disorder, but also because the muscle findings support a peripheral basis for the muscle movements.
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PMID:Hereditary myokymia and periodic ataxia. 117 Feb 84

"Rubral" tremor is a rare movement disorder that occurs typically with midbrain damage. It is defined by its presence at rest, with sustained posture, and with movement. Whether it is a single-tremor disorder or a combination of two distinct tremors is debated. This report chronicles a severe neuroleptic induced "rubral" tremor in a patient who had had a stable posttraumatic ataxia. The dramatic response to benztropine and bromocriptine is illustrated in the videotape.
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PMID:"Rubral" tremor induced by a neuroleptic drug. 162 Jan 47

Wernicke encephalopathy and Korsakoff psychosis are two facets of the same disease with well-determined cerebral lesions caused by thiamine deficiency. The disease occurs mainly in alcoholics, but other conditions (malabsorption or severe malnutrition) also predispose to the risk of Wernicke-Korsakoff syndrome. The incidence in Denmark is unknown. In the period 1.1.1979-31.12.1988, 24 patients (18 men and six women) were discharged from Rigshospitalet with the diagnosis Wernicke encephalopathy or Korsakoff psychosis. This represents about 0.05% of all admissions in the period. Eighteen out of the 24 cases (75%) were admitted in the past three years (1986-88). The mean age was 55 years. Twenty patients admitted alcohol abuse. The presenting symptoms and the patients' complaints showed great variety and were often related to other alcoholic complications, which could mask the disease. The classic symptom combination: eye movement abnormalities- ataxia and disorders of consciousness were found in seven patients (29%). Sixteen patients had disorders of consciousness or orientation. All the patients were treated with thiamine. The eye-movement disorder has recovered in eight out of ten known cases (80%), nystagmus--in six out of seven cases (86%) while ataxia, disorders of orientation and confabulation recovered in about 50% of cases. The average duration of hospitalisation was 50 days. Altogether nine patients died during the observation period. The condition is most probably underdiagnosed and the traditional diagnostic criteria are considered too rigid. The diagnosis should be considered in alcoholics who present even only one of the classical symptoms and in patients with alcohol dementia. Thiamine should be given on wide indications.
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PMID:[Wernicke-Korsakoff syndrome at the Rikshospitalet in 1979-1988. A retrospective study]. 192 15

We describe a 62-year-old patient who presented with ataxia and dystonia with mild dementia and was shown at autopsy to have Creutzfeldt-Jakob's disease. Movement disorders may be the presenting feature of Creutzfeldt-Jakob's disease, and this entity should be considered in the differential diagnosis of an otherwise obscure movement disorder even when the typical electroencephalographic pattern is absent.
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PMID:Creutzfeldt-Jakob's disease presenting with ataxia and a movement disorder. 205 7

We evaluated magnetic resonance image (MRI) in 21 cases of hereditary spinocerebellar degenerations (SCD) of autosomal dominant trait. By the discriminant formula based on size of the cerebellar vermis and ventral pons, which was reported in our previous study, the patients were classified into three types. Group 1 included the cases with atrophies in the vermis and pons; OPCA type. Group 2 showed vermian atrophy and less significant atrophy in pons; LCCA type. And Group 3 was no significant atrophies both in vermis and pons. Cases in Group 1 were furthermore divided into two groups according to width of the midbrain tegmentum. Group 1A, with normal midbrain tegmentum, was consisted of five cases. Four cases were diagnosed as Menzel type OPCA. Another case showed various clinical symptoms and relatively mild atrophies for his duration of illness. His family members were classified to Group 3. Seven cases in Group 1B showed reduced midbrain tegmentum. Four cases showed ataxia, spasticity, ocular symptoms, bladder dysfunction and amyotrophy with or without fasciculation, and they seemed to be a special type of SCD mimicking Joseph disease. One case showed bulging eyes, ocular movement palsy and dystonia. However, his sister manifested only ataxia with very mild ocular movement disorder. Their MRI demonstrated severe atrophies in the cerebellum, pons and afferent cerebellar peduncli, and this pedigree was thought to be Menzel type OPCA with various associated disorders. Another case was clinically diagnosed as dentate-rubro-pallido-luysian atrophy. Group 2 was consisted of 6 cases who were clinically diagnosed as Holmes type LCCA. MRI demonstrated medial dominant cerebellar atrophy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An MRI study of hereditary spinocerebellar degenerations]. 222 53

Thirty six children with typical features of Angelman's syndrome, including global developmental delay, ataxia, episodes of paroxysmal laughter, seizures, and microcephaly were studied. The series included three sibships of three affected sisters, two affected brothers, and two affected sisters, respectively. The facial appearance is characterised by a prominent jaw, a wide mouth, and a pointed chin. Tongue thrusting is common. The movement disorder consists of a wide based, ataxic gait with frequent jerky limb movements and flapping of the hands. Tone is variable in the limbs with normal reflexes, and the plantar responses are usually flexor. The syndrome is being diagnosed more often, and attention is drawn to its diagnostic aspects.
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PMID:The 'happy puppet' syndrome of Angelman: review of the clinical features. 246 40

We describe 19 cases of a familial syndrome consisting of infantile optic atrophy and an early movement disorder in which chorea predominated. About one-half the patients developed spastic paraparesis during the second decade of life. Ataxia and cognitive deficits were common, usually of mild degree. Seventeen of the patients were females. Sixteen had similarly affected siblings, but none had affected parents. All but one belonged to the Iraqi Jewish community in Israel, giving a minimal prevalence rate in this ethnic group of about 1:10,000.
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PMID:A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. 249 68

Sixty-eight human fibroblast cell strains were assayed for radioresistant DNA synthesis (RDS), which is defined here as the absence of a steep component of inhibition of DNA synthesis in a dose-response curve when rate of DNA synthesis is plotted against radiation doses from 0 to 20 Gy or more. Twenty-seven strains from patients who were previously diagnosed to have ataxia-telangiectasia (AT) were positive for this feature. Among the cell strains that did not show RDS were two from AT obligate heterozygotes (i.e., the parents of AT patients), two from patients with Alzheimer disease, two from patients with Friedreich ataxia, one from a patient with Bloom syndrome, one from a patient with Down syndrome, and six from patients with various immunodeficiencies. Four strains demonstrated RDS that was less pronounced than in most AT cells: one was from a patient with Nijmegen breakage syndrome, one was from a patient without ataxia but with choreiform movement disorder, telangiectasia, and elevated concentrations of alpha-fetoprotein in the blood, and two were from AT patients. RDS therefore is not a necessary trait of human genetic diseases that involve radiosensitivity or immunodeficiency. Although recent reports suggest that some AT patients do not exhibit RDS, we found RDS in all the AT cells we tested.
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PMID:Radioresistant DNA synthesis and human genetic diseases. 272 85

A 15 year old boy was evaluated in the psychiatric emergency room for the acute onset of "confusion,"insomnia, headache, and shaking of one week's duration. Two days later hallucinations, formication and a movement disorder emerged characterized by action tremor, myoclonus, chorea and ataxia. Further history revealed inhalation of gasoline for its euphoric effects. Plasma lead levels were in the toxic range. Chelation therapy reversed the clinical symptoms. Behavioral changes and a movement disorder in the context of gasoline inhalation are highly suggestive of organic lead encephalopathy. Recognition of this syndrome is important as chelation therapy is effective.
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PMID:Organic lead encephalopathy: behavioral change and movement disorder following gasoline inhalation. 705 7


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